Canonical Allele Identifier: CA351537642

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190062A>G (hg19) ; chr3:g.14148562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148562A>G , CM000665.2:g.14148562A>G	GRCh38
NC_000003.11:g.14190062A>G , CM000665.1:g.14190062A>G	GRCh37
NC_000003.10:g.14165063A>G	NCBI36
NG_011763.1:g.35111T>C , LRG_472:g.35111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420T>C MANE Select	ENSP00000285021.8:p.Val807Ala
ENST00000285021.11:c.2420T>C	ENSP00000285021.7:p.Val807Ala
ENST00000427795.2:n.285T>C
ENST00000476581.6:c.*1873T>C	ENSP00000424548.1:n.*1873T>C
NM_004628.4:c.2420T>C , LRG_472t1:c.2420T>C	NP_004619.3:p.Val807Ala
NR_027299.1:n.2400T>C
XM_011534092.1:c.2420T>C	XP_011532394.1:p.Val807Ala
NM_001354726.1:c.1841T>C	NP_001341655.1:p.Val614Ala
NM_001354727.1:c.2414T>C	NP_001341656.1:p.Val805Ala
NM_001354729.1:c.2402T>C	NP_001341658.1:p.Val801Ala
NM_001354730.1:c.2174T>C	NP_001341659.1:p.Val725Ala
NR_148950.1:n.2363T>C
NR_148951.1:n.2239T>C
XR_001740256.2:n.2453T>C
XR_002959580.1:n.2453T>C
XR_002959581.1:n.4070T>C
NM_001354727.2:c.2414T>C	NP_001341656.1:p.Val805Ala
NM_004628.5:c.2420T>C MANE Select	NP_004619.3:p.Val807Ala
NR_148950.2:n.2292T>C
NR_148951.2:n.2168T>C
NM_001354726.2:c.1841T>C	NP_001341655.1:p.Val614Ala
NM_001354729.2:c.2402T>C	NP_001341658.1:p.Val801Ala
NM_001354730.2:c.2174T>C	NP_001341659.1:p.Val725Ala